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Gene TP53
Variant R248Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R248Q is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248Q results in increased proliferation, migration, invasion, and protein stability and altered subcellular localization in culture (PMID: 37030635), loss of DNA binding and decreased transactivation of Tp53 targets and interference with wild-type Tp53 transactivation, leads to resistance to apoptosis and failure of G1 arrest in cell culture (PMID: 23538418, PMID: 16861262, PMID: 31395785), as well as increased Akt activation, Stat3 dependent migration, and enhanced tumor onset and growth in mouse models (PMID: 30107178).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 R248Q

TP53 mutant TP53 inact mut TP53 R248Q

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Transcript NM_000546.6
gDNA chr17:g.7674220C>T
cDNA c.743G>A
Protein p.R248Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674220C>T c.743G>A p.R248Q RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries